Mutagenetix > Incidental Mutation

Incidental Mutation 'R0112:Galnt14'

20557

Institutional Source

Beutler Lab

Gene Symbol

Galnt14

Ensembl Gene

ENSMUSG00000024064

Gene Name

polypeptide N-acetylgalactosaminyltransferase 14

Synonyms

0610033M06Rik

MMRRC Submission

038398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73800223-74017448 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 73881979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024858] [ENSMUST00000112591]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024858

SMART Domains

Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	111	359	1.4e-10	PFAM
Pfam:Glycos_transf_2	114	294	7.5e-30	PFAM
Pfam:Glyco_tranf_2_2	114	333	1.5e-8	PFAM
Pfam:Glyco_transf_7C	271	340	7e-8	PFAM
RICIN	420	548	7.23e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112591

SMART Domains

Protein: ENSMUSP00000108210
Gene: ENSMUSG00000024064

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	111	359	1.1e-10	PFAM
Pfam:Glycos_transf_2	114	291	2.4e-27	PFAM
Pfam:Glyco_tranf_2_2	114	333	1.7e-8	PFAM
Pfam:Glyco_transf_7C	270	340	9e-8	PFAM
low complexity region	415	429	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146565

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,870,600 (GRCm39)	R351L	probably damaging	Het
Axin2	T	C	11: 108,830,223 (GRCm39)	S348P	possibly damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Enox1	A	T	14: 77,936,638 (GRCm39)	I539F	possibly damaging	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Gp6	C	A	7: 4,373,183 (GRCm39)	A247S	probably benign	Het
Gp6	G	C	7: 4,374,626 (GRCm39)	P232A	probably benign	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trf	A	G	9: 103,104,155 (GRCm39)		probably benign	Het
Trp53	T	G	11: 69,479,505 (GRCm39)	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		probably benign	Het

Other mutations in Galnt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Galnt14	APN	17	73,801,227 (GRCm39)	missense	probably damaging	1.00
IGL01295:Galnt14	APN	17	73,811,914 (GRCm39)	missense	probably benign	0.01
IGL01578:Galnt14	APN	17	73,842,361 (GRCm39)	splice site	probably benign
IGL01833:Galnt14	APN	17	73,811,899 (GRCm39)	missense	probably benign
IGL02572:Galnt14	APN	17	73,842,262 (GRCm39)	missense	probably damaging	1.00
IGL02890:Galnt14	APN	17	73,816,519 (GRCm39)	critical splice donor site	probably null
IGL03145:Galnt14	APN	17	73,811,903 (GRCm39)	missense	possibly damaging	0.63
IGL03175:Galnt14	APN	17	73,829,649 (GRCm39)	missense	probably damaging	1.00
R0051:Galnt14	UTSW	17	73,814,854 (GRCm39)	missense	probably benign	0.00
R0167:Galnt14	UTSW	17	73,829,715 (GRCm39)	missense	probably damaging	1.00
R0525:Galnt14	UTSW	17	73,852,076 (GRCm39)	missense	probably damaging	1.00
R0675:Galnt14	UTSW	17	73,852,030 (GRCm39)	missense	probably damaging	1.00
R1192:Galnt14	UTSW	17	73,852,133 (GRCm39)	splice site	probably benign
R1335:Galnt14	UTSW	17	73,833,285 (GRCm39)	missense	probably damaging	1.00
R1549:Galnt14	UTSW	17	73,832,308 (GRCm39)	missense	possibly damaging	0.79
R1824:Galnt14	UTSW	17	74,016,934 (GRCm39)	missense	probably benign	0.01
R2061:Galnt14	UTSW	17	73,819,148 (GRCm39)	missense	probably damaging	1.00
R2259:Galnt14	UTSW	17	73,801,261 (GRCm39)	missense	probably benign	0.00
R3844:Galnt14	UTSW	17	74,016,924 (GRCm39)	critical splice donor site	probably null
R4257:Galnt14	UTSW	17	73,811,899 (GRCm39)	missense	probably benign
R4364:Galnt14	UTSW	17	73,819,154 (GRCm39)	missense	probably damaging	0.99
R4664:Galnt14	UTSW	17	73,814,808 (GRCm39)	intron	probably benign
R4744:Galnt14	UTSW	17	73,814,828 (GRCm39)	missense	probably damaging	1.00
R4810:Galnt14	UTSW	17	73,819,116 (GRCm39)	missense	probably damaging	0.99
R4840:Galnt14	UTSW	17	73,811,893 (GRCm39)	missense	probably benign	0.01
R4846:Galnt14	UTSW	17	73,843,888 (GRCm39)	missense	probably benign	0.19
R5328:Galnt14	UTSW	17	73,812,454 (GRCm39)	missense	possibly damaging	0.46
R5507:Galnt14	UTSW	17	73,802,661 (GRCm39)	missense	probably damaging	0.98
R5816:Galnt14	UTSW	17	73,881,877 (GRCm39)	missense	probably damaging	1.00
R5872:Galnt14	UTSW	17	73,881,826 (GRCm39)	missense	probably damaging	1.00
R5933:Galnt14	UTSW	17	73,833,300 (GRCm39)	missense	probably benign	0.01
R6490:Galnt14	UTSW	17	73,832,365 (GRCm39)	missense	probably damaging	0.98
R7117:Galnt14	UTSW	17	73,801,190 (GRCm39)	missense	probably benign	0.00
R7128:Galnt14	UTSW	17	73,852,096 (GRCm39)	missense	probably benign
R7451:Galnt14	UTSW	17	73,881,804 (GRCm39)	missense	probably benign	0.00
R7604:Galnt14	UTSW	17	73,811,916 (GRCm39)	missense	possibly damaging	0.94
R7786:Galnt14	UTSW	17	74,016,976 (GRCm39)	missense	probably benign	0.00
R8693:Galnt14	UTSW	17	73,833,257 (GRCm39)	missense	probably damaging	1.00
R9573:Galnt14	UTSW	17	73,802,662 (GRCm39)	missense	probably damaging	1.00
X0067:Galnt14	UTSW	17	73,816,521 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTGCAAGCAGTGTGTAGCACAG -3'
(R):5'- GGGCTTGATAGGTAGCAGTAGCAAC -3'

Sequencing Primer
(F):5'- GGCACTATGATCAGTGAGTCTCC -3'
(R):5'- GGTAGCAGTAGCAACATTATCAC -3'

Posted On

2013-04-11